Clinical Genetics Resources
Clinical Resources
Acute and Long-term Management
- Acute
- Long-term
Dysmorphology
Panel Comparison and Generation
Genetic Databases
- Condition-Specific Databases
- Gene-Specific Databases
- General Databases
- Pharmacogenomic Databases
- Population-Specific Databases
- Catalogue for Transmission Genetics in Arabs (CTGA)
- Finnish Disease Database (FinDis)
- Human Genetic Variation Database (HGVD)
- Human Genome Variation Society (HGVS)
- Locus Specific Mutation Databases (LSDB)
- Medical Genomics Japan Variant Database (MGeND)
- Moroccan Genetic Disease Database (MGDD)
- MTCards
Genome Browsers
- Awesome Genome Visualization
- ENCODE
- Ensembl
- Genome Data Viewer (GDV)
- Integrative Genomics Viewer (IGV)
- JBrowse
- 3D Genome Browser
- UCSC genome browser
- Variation Viewer
Genotype to Phenotype1
Allele Frequency
Clinical Knowledge
- Gene & Variant Impact Databases
- Matchmaker Exchanges
- Disease-Gene-Phenotype Relationship Databases
Computational & Predictive Data
Functional Knowledge
- Gene Expression
- Genomic Regulation
- Interaction Analysis
- Linkage to (Causal) Variant
- Model Organism
- Prior studies
- Protein Function and Mutational Hotspots
Nomenclature & Ontologies
- Gene Ontology knowledgebase (GO)
- HUGO Gene Nomenclature Committee (HGNC)
- IDSL.GOA
- Ontology Lookup Service (OLS)
- The Human Phenotype Ontology (HPO)
Phenotype to Genotype
- Automatic Mendelian Literature Evaluation (AMELIE)
- Genetic Disease Diagnosis based on Phenotypes (GDDP)
- GeneNetwork Assisted Diagnostic Optimization (GADO)
- Phen2Gene
- PhenoApt
- Phenomizer
- PubCaseFinder
- Variant Interpretation using Biomedical literature Evidence (VIBE)
Rare Disease Explorers
- FindZebra
- Genetic and Rare Diseases (GARD)
- MedGen
- MedlinePlus
- National Organization for Rare Disorders (NORD)
- Online Mendelian Inheritance in Man (OMIM)
- OrphaNet
- Rare Disease Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Smorgasbord
Recommendations for clinical interpretation of variants found in non-coding regions of the genome↩︎
An expanded phenotype centric benchmark of variant prioritization tools↩︎
A comparison on predicting functional impact of genomic variants↩︎
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria↩︎
Questions? Contributions?
bmuchmor@med.umich.edu